Previous GeneCards Identifiers for ALG12 Gene

Summaries for ALG12 Gene

Entrez Gene Summary for ALG12 Gene

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

UniProtKB/Swiss-Prot

Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:11983712, ECO:0000269 PubMed:12093361, ECO:0000269 PubMed:12217961, ECO:0000269 PubMed:12736397, ECO:0000269 PubMed:17506107}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Large-scale cDNA transfection screening for genes related to cancer development and progression.(PMID: 15498874)Wan D … Gu J(Proceedings of the National Academy of Sciences of the United States of America 2004)3460